Linked Data
ClinVar Variation Id:
15679
dbSNP Id:
rs41457746
gnomAD v2:
16-223122-A-G
gnomAD v3:
16-173123-A-G
gnomAD v4:
16-173123-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173123A>G , CM000678.2:g.173123A>G | GRCh38 |
| NC_000016.9:g.223122A>G , CM000678.1:g.223122A>G | GRCh37 |
| NC_000016.8:g.163122A>G | NCBI36 |
| NG_000006.1:g.33986A>G | |
| NG_059186.1:g.1473A>G | |
| NG_059271.1:g.5277A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.96-2A>G MANE Select | ENSP00000251595.6:n.96-2A>G | |
| ENST00000251595.10:c.96-2A>G | ENSP00000251595.6:n.96-2A>G | |
| ENST00000397806.1:c.-1-2A>G | ENSP00000380908.1:n.-1-2A>G | |
| ENST00000482565.1:n.230A>G | ||
| ENST00000484216.1:n.65-2A>G | ||
| NM_000517.4:c.96-2A>G | NP_000508.1:n.96-2A>G | |
| NM_000517.6:c.96-2A>G MANE Select | NP_000508.1:n.96-2A>G |